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Table 2 Previously reported cases of POMC deficiency

From: Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation

Age/Gender Country/region of origin Triad criteria (red hair, AI, obesity) POMC gene mutation Reference
Neonatal/M Slovenia + A6851T/6996del Krude[11]
4 weeks/M Netherlands + C3804A/C3804A Krude[11]
6 months/F Switzerland + C3804A/7100insGG Krude[11]
2 years/M Turkey - C6906del/C6906del Farooqi[12]
3 years/F Germany + G7013T/C7133del Krude[10]
5 years/M Germany + C3804A/C3804A Krude[10]
18 years/F North Africa - 6922insC/6922insC Clément[13]
Unknown Japan unknown GTG3895AC Krude[9]
  1. * AI = adrenal insufficiency